SERPINE1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SERPINE1 (HGNC:8583) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- serpin family E member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PLANH1, PAI1
- Alias symbols
- PAI
- %HI
- 6.47(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.04(Read more about gnomAD pLI score)
- LOEUF
- 0.69(Read more about gnomAD LOEUF score)
- Cytoband
- 7q22.1
- Genomic Coordinates
-
GRCh37/hg19: chr7:100770385-100782528 NCBI Ensembl UCSC GRCh38/hg38: chr7:101127104-101139247 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000602.5 ENST00000223095.5 (Read more about MANE Select)
- Function
- Serine protease inhibitor. Inhibits TMPRSS7 (PubMed:15853774). Is a primary inhibitor of tissue-type plasminogen activator (PLAT) and urokinase-type plasminogen activator (PLAU). As PLAT inhibitor, it is required for fibrinolysis down-regulation and is responsible for the controlled degradation of blood clots (PubMed:8481516, PubMed:9207454, PubMed:17912461). As PLAU inhibitor, it is involved in the regulation of cell adhesion and spreading (PubMed:9175705). Acts as a regulator of cell migration... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23223
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- congenital plasminogen activator inhibitor type 1 deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)